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Is Part Of Human mutation. Volume 42:Issue 5(2021)

1. A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons. Issue 5 (1st March 2021)

Authors:
Luna, Sandra; Torices, Leire; Mingo, Janire; Amo, Laura; Rodríguez‐Escudero, Isabel; Ruiz‐Ibarlucea, Pablo; Erramuzpe, Asier; Cortés, Jesús M.; Tejada, María I.; Molina, María; Nunes‐Xavier, Caroline E.; López, José I.; Cid, Víctor J.; Pulido, Rafael
Journal:
Human mutation
Issue:
Volume 42:Issue 5(2021)
Page Start:
551
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing. Issue 5 (19th March 2021)

Authors:
Nallamilli, Babi R. R.; Chaubey, Alka; Valencia, C. A.; Stansberry, Leah; Behlmann, Andrea M.; Ma, Zeqiang; Mathur, Abhinav; Shenoy, Suresh; Ganapathy, Vidya; Jagannathan, Lakshmanan; Ramachander, Vinish; Ferlini, Alessandra; Bean, Lora; Hegde, Madhuri
Journal:
Human mutation
Issue:
Volume 42:Issue 5(2021)
Page Start:
626
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects. Issue 5 (1st April 2021)

Authors:
Beecroft, Sarah J.; Ayala, Marcos; McGillivray, George; Nanda, Vikas; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria C.; Dotta, Andrea; Carrozzo, Rosalba; Clayton, Joshua; Gaffney, Lydia; McLean, Catriona A.; Ng, Jessica; Laing, Nigel G.; Matteson, Paul; Millonig, James; Ravenscroft, Gianina
Journal:
Human mutation
Issue:
Volume 42:Issue 5(2021)
Page Start:
506
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Comprehensive characterization of Alu‐mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL families. Issue 5 (19th March 2021)

Authors:
Vocke, Cathy D.; Ricketts, Christopher J.; Schmidt, Laura S.; Ball, Mark W.; Middelton, Lindsay A.; Zbar, Berton; Linehan, W. Marston
Journal:
Human mutation
Issue:
Volume 42:Issue 5(2021)
Page Start:
520
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model. Issue 5 (1st March 2021)

Authors:
Davidson, Aimee L.; Leonard, Conrad; Koufariotis, Lambros T.; Parsons, Michael T.; Hollway, Georgina E.; Pearson, John V.; Newell, Felicity; Waddell, Nicola; Spurdle, Amanda B.
Journal:
Human mutation
Issue:
Volume 42:Issue 5(2021)
Page Start:
530
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1. Issue 5 (1st March 2021)

Authors:
Sakhi, Imène; Bignon, Yohan; Frachon, Nadia; Hureaux, Marguerite; Arévalo, Bárbara; González, Wendy; Vargas‐Poussou, Rosa; Lourdel, Stéphane
Journal:
Human mutation
Issue:
Volume 42:Issue 5(2021)
Page Start:
537
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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